KIT and mastocytosis

Research output: Contribution to journalArticle

32 Citations (Scopus)

Abstract

KIT is a receptor tyrosine kinase that is functionally relevant for hematopoiesis, mast cell development and function, gametogenesis and melanogenesis. Normal KIT signaling requires binding to stem cell factor, and PI3K-Akt is one of the putative effector pathways. In humans, germline loss-of-function KIT mutations have been associated with piebaldism - an autosomal dominant condition characterized by depigmented patches of skin and hair. Gain-of-function KIT mutations are usually acquired and have been associated with myeloid malignancies including core binding factor acute myeloid leukemia and systemic mastocytosis (SM), germ cell tumors, gastrointestinal stromal tumors and sinonasal T cell lymphomas. KITD816V is the most prevalent KIT mutation in mast cell disease and occurs in more than 90% of the cases that fulfill the World Health Organization diagnostic criteria for SM. However, its precise pathogenetic contribution is not well understood. In clinical practice, SM is considered either indolent or aggressive depending on the respective absence or presence of symptomatic target organ dysfunction aside from skin disease. In general, conventional therapy for SM is suboptimal, and efforts are under way to develop and employ small molecule drugs that target mutant KIT.

Original languageEnglish (US)
Pages (from-to)194-198
Number of pages5
JournalActa Haematologica
Volume119
Issue number4
DOIs
StatePublished - Jul 2008

Fingerprint

Systemic Mastocytosis
Mastocytosis
Mutation
Piebaldism
Core Binding Factors
Gametogenesis
Gastrointestinal Stromal Tumors
Stem Cell Factor
T-Cell Lymphoma
Germ Cell and Embryonal Neoplasms
Hematopoiesis
Receptor Protein-Tyrosine Kinases
Phosphatidylinositol 3-Kinases
Skin Diseases
Acute Myeloid Leukemia
Mast Cells
Hair
Skin
Pharmaceutical Preparations
Neoplasms

Keywords

  • KIT mutation
  • Mast cell disease
  • Systemic mastocytosis

ASJC Scopus subject areas

  • Hematology

Cite this

KIT and mastocytosis. / Lim, Ken Hong; Pardanani, Animesh D; Tefferi, Ayalew.

In: Acta Haematologica, Vol. 119, No. 4, 07.2008, p. 194-198.

Research output: Contribution to journalArticle

Lim, Ken Hong ; Pardanani, Animesh D ; Tefferi, Ayalew. / KIT and mastocytosis. In: Acta Haematologica. 2008 ; Vol. 119, No. 4. pp. 194-198.
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